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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN2, LOC129938055
(L21fs)
Duplication
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(R593* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+1 more
GPathogenic
CLCN2
(E646* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GLikely pathogenic
CLCN2
(P417fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(S675L +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GUncertain significance
CLCN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(intron variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(synonymous variant)
Familial hyperaldosteronism type II
+3 more
GLikely benign
CLCN2
(A501T +2 more)
Single nucleotide variant
(missense variant)
See cases
+4 more
GUncertain significance
CLCN2
(Y564H +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GUncertain significance
CLCN2
(R581Q +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+4 more
GUncertain significance
CLCN2
(R572H +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GUncertain significance
CLCN2
(T361M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCN2
(R852H +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCN2
(P52S)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+3 more
GUncertain significance
CLCN2
(L831V +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+2 more
GUncertain significance
CLCN2
(V490L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CLCN2
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
(L179fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GPathogenic/Likely pathogenic
CLCN2
(A462V +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CLCN2
Single nucleotide variant
(splice donor variant)
Familial hyperaldosteronism type II
+3 more
GLikely pathogenic
CLCN2
(R609T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
CLCN2
(I329fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
Single nucleotide variant
(splice acceptor variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(L196P +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+5 more
GUncertain significance
CLCN2
Single nucleotide variant
(intron variant)
Familial hyperaldosteronism type II
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
CLCN2
(P337A +1 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+4 more
GConflicting classifications of pathogenicity
CLCN2
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GLikely benign
CLCN2
Single nucleotide variant
(synonymous variant)
Familial hyperaldosteronism type II
+4 more
GLikely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
CLCN2
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 11
+3 more
GBenign/Likely benign
CLCN2
(R172Q +1 more)
Single nucleotide variant
(missense variant)
Familial hyperaldosteronism type II
+2 more
GPathogenic
CLCN2
Duplication
(intron variant)
Familial hyperaldosteronism type II
+3 more
GBenign/Likely benign
CLCN2
(Q796* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CLCN2
(R653* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(D599N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN2
(G503R +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(E475fs +1 more)
Deletion
(frameshift variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(R471H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN2
(G466E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN2
(L391fs +1 more)
Deletion
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(G382fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CLCN2
(S331fs +1 more)
Indel
(frameshift variant)
CLCN2-related disorder
GPathogenic
CLCN2
(V339L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLCN2
(R309* +1 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(G98R)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
Deletion
(splice acceptor variant +1 more)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(A760V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CLCN2
(S758N +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(R747H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CLCN2
(R725W +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+2 more
GBenign/Likely benign
CLCN2
(E718D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CLCN2
(R688Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CLCN2
(T668S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLCN2
(R646Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
CLCN2
(R644C +2 more)
Single nucleotide variant
(missense variant)
CLCN2-related disorder
+4 more
GBenign/Likely benign
CLCN2
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CLCN2
(G199A +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(F82L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CLCN2
(R73H)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GConflicting classifications of pathogenicity
CLCN2
(R68H)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CLCN2
(P48R)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CLCN2
(G44R)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Gnot provided
CLCN2
(R233fs +1 more)
Duplication
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(A500V +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
Deletion
(inframe_deletion)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
GPathogenic
CLCN2
(W570* +2 more)
Single nucleotide variant
(nonsense)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GPathogenic/Likely pathogenic
CLCN2
(R577Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CLCN2
(R235Q +1 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+3 more
GConflicting classifications of pathogenicity
CLCN2
(G715E +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, juvenile absence 2
GUncertain significance
CLCN2
Deletion
(intron variant)
not provided
GLikely benign
CLCN2
(M156fs +1 more)
Duplication
(frameshift variant)
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
+1 more
GConflicting classifications of pathogenicity
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